Canonical Allele Identifier: CA370994052

Gene: RP1

Linked Data

• ClinVar Variation Id: 1396993
• ClinVar RCV Id: RCV001920096
• dbSNP Id: rs1806051320
• gnomAD v4: 8-54626413-C-T
• COSMIC: COSM5874818
• MyVariant Identifiers: chr8:g.55538973C>T (hg19) ; chr8:g.54626413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.54626413C>T , CM000670.2:g.54626413C>T	GRCh38
NC_000008.10:g.55538973C>T , CM000670.1:g.55538973C>T	GRCh37
NC_000008.9:g.55701526C>T	NCBI36
NG_009840.1:g.15347C>T
NG_009840.2:g.15347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220676.2:c.2531C>T MANE Select	ENSP00000220676.1:p.Ser844Phe
ENST00000636932.1:c.787+4125C>T	ENSP00000489857.1:n.787+4125C>T
ENST00000637698.1:c.787+4125C>T	ENSP00000490104.1:n.787+4125C>T
ENST00000220676.1:c.2531C>T	ENSP00000220676.1:p.Ser844Phe
NM_006269.1:c.2531C>T	NP_006260.1:p.Ser844Phe
XM_017013721.1:c.2552C>T	XP_016869210.1:p.Ser851Phe
XM_017013722.1:c.2531C>T	XP_016869211.1:p.Ser844Phe
NM_001375654.1:c.787+4125C>T	NP_001362583.1:n.787+4125C>T
NM_006269.2:c.2531C>T MANE Select	NP_006260.1:p.Ser844Phe